Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. 27425403

2016

dbSNP: rs80358027
rs80358027
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. 26287763

2015

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. 23458327

2014

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. 21769658

2012

dbSNP: rs80358027
rs80358027
A 0.700 CausalMutation CLINVAR Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. 21735045

2012

dbSNP: rs80358027
rs80358027
A 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010

dbSNP: rs80358027
rs80358027
A 0.700 CausalMutation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756

2008

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007

dbSNP: rs80358027
rs80358027
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. 15533909

2004

dbSNP: rs80358027
rs80358027
G 0.700 GeneticVariation CLINVAR